Prothrombin G20210A
Prothrombin G20210A is a genetic condition that increases the risk of developing abnormal blood clots in veins, a condition known as venous thromboembolism. This condition is caused by a specific mutation in the F2 gene, which provides instructions for making a protein called prothrombin (also known as coagulation factor II).
Causes[edit | edit source]
The F2 gene mutation that causes Prothrombin G20210A results in the production of an abnormally high amount of prothrombin. This excess prothrombin increases the risk of developing abnormal blood clots in veins, a condition known as venous thromboembolism.
Symptoms[edit | edit source]
People with Prothrombin G20210A may not have any signs or symptoms unless they develop abnormal blood clots. These clots can cause symptoms such as pain, swelling, warmth and redness in the affected area. If the clot is in the lungs (pulmonary embolism), it can cause shortness of breath, chest pain and coughing up blood.
Diagnosis[edit | edit source]
Prothrombin G20210A is diagnosed through genetic testing, which can identify the mutation in the F2 gene. This test is usually done if a person has a personal or family history of abnormal blood clots.
Treatment[edit | edit source]
Treatment for Prothrombin G20210A typically involves medications to prevent or treat blood clots. These may include anticoagulant medications, which prevent blood clots from forming, and thrombolytic medications, which break up existing clots.
See Also[edit | edit source]
Prothrombin G20210A Resources | |
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Contributors: Prab R. Tumpati, MD